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BACKGROUND: Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, affecting the nervous system and the internal organs. It is characterized by the presence of foam cells in bone marrow, liver, and spleen biopsies. Although many mutations in NPC1 have been identified to be related to disease onset, the relationship between genotype and phenotype remains unclear. To elucidate the genetic heterogeneity of NPC, we described the clinical manifestations and possible genetic pathogenesis of two patients from unrelated families with NPC. METHODS: DNA was extracted from the peripheral blood of the two patients and their families and from healthy individuals. Whole-exome sequencing followed by Sanger sequencing was performed to verify the mutations identified in their families. RESULTS: We identified four mutations in NPC1 in the two patients from different families: c.1290delC (p.F431Lfs*18)/c.2807G > A(p.G936D) in family A and c.3604_3605insA (p.I1202Nfs*56)/c.881 + 3A > G in family B from their parents. Bioinformatics analysis predicted these mutations to be deleterious, suggesting that mutations in exons are highly conservative. The patient in family A presented with a developmental delay that was different from the typical symptoms of developmental regression in family B. CONCLUSION: Our study identified three novel mutations and one known mutation in NPC1 and evaluated their pathogenicity, enriching the NPC1 mutation and phenotype spectrum and providing a new basis for the genetic and prenatal diagnosis of this disease.
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Enfermedad de Niemann-Pick Tipo C , China , Femenino , Humanos , Mutación/genética , Proteína Niemann-Pick C1/genética , Enfermedad de Niemann-Pick Tipo C/diagnóstico , Enfermedad de Niemann-Pick Tipo C/genética , Embarazo , Secuenciación del ExomaRESUMEN
BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) has been reported worldwidely. However, the data about recurrent cases is limited. We aimed to analyze the clinical and radiographic features of recurrent MERS, and its possible mechanisms. CASE PRESENTATION: Two patients with clinically recurrent MERS were reported here, exhibiting neurological symptoms such as limbs weakness and numbness, stand/walk unsteadily, slurred speech and irritability, and typical lesions in the corpus callosum and white matter. One of them experienced another four episodes with a similar clinical course and magnetic resonance imaging findings over a period of 10 years. The Na levels in the present two patients were normal. DISCUSSION AND CONCLUSION: Combined with the patients reported previously, recurrence could be seen in both MERS type 1 and type 2 patients, from two to multiple times, with the latter possibly more common. It suggested that some genetic factors might be involved in MERS, especially for MERS type 2 or familial MERS.
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Encefalopatías , Encefalitis , Encefalopatías/diagnóstico por imagen , Encefalopatías/etiología , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/patología , Encefalitis/diagnóstico por imagen , Humanos , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: No specific antiviral drug has been proven effective for treatment of patients with severe coronavirus disease 2019 (COVID-19). Remdesivir (GS-5734), a nucleoside analogue prodrug, has inhibitory effects on pathogenic animal and human coronaviruses, including severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in vitro, and inhibits Middle East respiratory syndrome coronavirus, SARS-CoV-1, and SARS-CoV-2 replication in animal models. METHODS: We did a randomised, double-blind, placebo-controlled, multicentre trial at ten hospitals in Hubei, China. Eligible patients were adults (aged ≥18 years) admitted to hospital with laboratory-confirmed SARS-CoV-2 infection, with an interval from symptom onset to enrolment of 12 days or less, oxygen saturation of 94% or less on room air or a ratio of arterial oxygen partial pressure to fractional inspired oxygen of 300 mm Hg or less, and radiologically confirmed pneumonia. Patients were randomly assigned in a 2:1 ratio to intravenous remdesivir (200 mg on day 1 followed by 100 mg on days 2-10 in single daily infusions) or the same volume of placebo infusions for 10 days. Patients were permitted concomitant use of lopinavir-ritonavir, interferons, and corticosteroids. The primary endpoint was time to clinical improvement up to day 28, defined as the time (in days) from randomisation to the point of a decline of two levels on a six-point ordinal scale of clinical status (from 1=discharged to 6=death) or discharged alive from hospital, whichever came first. Primary analysis was done in the intention-to-treat (ITT) population and safety analysis was done in all patients who started their assigned treatment. This trial is registered with ClinicalTrials.gov, NCT04257656. FINDINGS: Between Feb 6, 2020, and March 12, 2020, 237 patients were enrolled and randomly assigned to a treatment group (158 to remdesivir and 79 to placebo); one patient in the placebo group who withdrew after randomisation was not included in the ITT population. Remdesivir use was not associated with a difference in time to clinical improvement (hazard ratio 1·23 [95% CI 0·87-1·75]). Although not statistically significant, patients receiving remdesivir had a numerically faster time to clinical improvement than those receiving placebo among patients with symptom duration of 10 days or less (hazard ratio 1·52 [0·95-2·43]). Adverse events were reported in 102 (66%) of 155 remdesivir recipients versus 50 (64%) of 78 placebo recipients. Remdesivir was stopped early because of adverse events in 18 (12%) patients versus four (5%) patients who stopped placebo early. INTERPRETATION: In this study of adult patients admitted to hospital for severe COVID-19, remdesivir was not associated with statistically significant clinical benefits. However, the numerical reduction in time to clinical improvement in those treated earlier requires confirmation in larger studies. FUNDING: Chinese Academy of Medical Sciences Emergency Project of COVID-19, National Key Research and Development Program of China, the Beijing Science and Technology Project.
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Adenosina Monofosfato/análogos & derivados , Alanina/análogos & derivados , Antivirales/uso terapéutico , Infecciones por Coronavirus/tratamiento farmacológico , Neumonía Viral/tratamiento farmacológico , Adenosina Monofosfato/efectos adversos , Adenosina Monofosfato/uso terapéutico , Anciano , Alanina/efectos adversos , Alanina/uso terapéutico , Antivirales/efectos adversos , Betacoronavirus , COVID-19 , China , Método Doble Ciego , Femenino , Humanos , Infusiones Intravenosas , Masculino , Persona de Mediana Edad , Resultados Negativos , Pandemias , SARS-CoV-2 , Tratamiento Farmacológico de COVID-19RESUMEN
OBJECTIVE: To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy. METHODS: Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members. RESULTS: The proband was found to carry a frameshifting mutation of MBD5 gene, namely c.2217delT (p.F739Lfs*6), which was inherited from his mother and unreported previously. Sanger sequencing confirmed that his brother carried the same mutation with a similar phenotype. His mother also had poor language expression when she was young, in addition with poor academic performance, though she could do some housework and had no history of convulsion. CONCLUSION: A novel pathogenic variant of the MBD5 gene was discovered, which has enriched the mutational spectrum of the MBD5 gene. Above discovery has enabled genetic counseling and prenatal diagnosis for the family.
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Proteínas de Unión al ADN , Discapacidad Intelectual , Niño , Proteínas de Unión al ADN/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Mutación , Linaje , Fenotipo , Embarazo , Secuenciación del ExomaRESUMEN
The aim of this study was to identify factors associated with the death of patients with COVID-19 pneumonia caused by the novel coronavirus SARS-CoV-2.All clinical and laboratory parameters were collected prospectively from a cohort of patients with COVID-19 pneumonia who were hospitalised to Wuhan Pulmonary Hospital (Wuhan City, Hubei Province, China) between 25 December 2019 and 7 February 2020. Univariate and multivariate logistic regression analysis revealed that age ≥65 years (OR 3.765, 95% CI 1.14617.394; p=0.023), pre-existing concurrent cardiovascular or cerebrovascular diseases (OR 2.464, 95% CI 0.7558.044; p=0.007), CD3+CD8+ T-cells ≤75 cells·µL−1 (OR 3.982, 95% CI 1.13214.006; p<0.001) and cardiac troponin I ≥0.05â ng·mL−1 (OR 4.077, 95% CI 1.16614.253; p<0.001) were associated with an increase in risk of mortality from COVID-19 pneumonia." has been corrected to: "Univariate and multivariate logistic regression analysis revealed that age ≥65 years (OR 3.765, 95% CI 1.201−11.803; p=0.023), pre-existing concurrent cardiovascular or cerebrovascular diseases (OR 2.464, 95% CI 1.279−4.747; p=0.007), CD3+CD8+ T-cells ≤75 cells·µL−1 (OR 3.982, 95% CI 1.7619.004; p<0.001) and cardiac troponin I ≥0.05â ng·mL−1 (OR 4.077, 95% CI 1.7789.349; p<0.001) were associated with an increase in risk of mortality from COVID-19 pneumonia. In a sex-, age- and comorbid illness-matched case-control study, CD3+CD8+ T-cells ≤75â cells·µL-1 and cardiac troponin I ≥0.05â ng·mL-1 remained as predictors for high mortality from COVID-19 pneumonia.We identified four risk factors: age ≥65â years, pre-existing concurrent cardiovascular or cerebrovascular diseases, CD3+CD8+ T-cells ≤75â cells·µL-1 and cardiac troponin I ≥0.05â ng·mL-1 The latter two factors, especially, were predictors for mortality of COVID-19 pneumonia patients.
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Infecciones por Coronavirus/mortalidad , Coronavirus , Neumonía Viral/mortalidad , Adulto , Distribución por Edad , Factores de Edad , Anciano , Anciano de 80 o más Años , Betacoronavirus , Linfocitos T CD8-positivos , COVID-19 , Enfermedades Cardiovasculares/epidemiología , Estudios de Casos y Controles , Trastornos Cerebrovasculares/epidemiología , China , Comorbilidad , Infecciones por Coronavirus/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pandemias , Neumonía Viral/diagnóstico , Neumonía Viral/terapia , Estudios Prospectivos , SARS-CoV-2 , Troponina I/sangreRESUMEN
OBJECTIVE: This study aimed to examine the overlaps between the Diagnostic and Statistical Manual-5 (DSM-5) Personality Disorders (PDs) in a high-risk clinical population and to explore a transitional model for implementing DSM-5 PDs. METHOD: A sample population of 982 outpatients with at least one diagnosed PD was selected from 3,075 outpatients of the Shanghai Mental Health Center. The diagnostic process comprised of a personality diagnostic questionnaire and a structured clinical interview. RESULTS: 685 (22.3%) patients were diagnosed with at least one of six PDs (antisocial, avoidant, borderline, narcissistic, obsessive-compulsive, and schizotypal) under the alternative DSM-5 model for personality disorders proposed in Section III of the DSM-5. Nearly 20.3% of the subjects with PD met criteria for at least two PDs (of the 685 PD patients/6 PD model). Cluster and principal component analyses suggest a transitional model for the 7 specific PD categories (among the 722 PD patients, the overlapping rate was 24.1%) will be more appropriate for PD diagnosis in China. CONCLUSIONS: Using the simplified PD categories in the alternative DSM-5 model for personality disorders will reduce the overlaps in PD diagnoses in Chinese psychiatric practice, and should be preferred over the DSM-5 PD diagnostic system.
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Manual Diagnóstico y Estadístico de los Trastornos Mentales , Trastornos de la Personalidad/diagnóstico , Personalidad , Adulto , Trastorno de Personalidad Antisocial/diagnóstico , China , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pacientes Ambulatorios/psicología , Encuestas y CuestionariosRESUMEN
Enterovirus 71 (EV71) infection has become one of the major threats to children globally in recent years. Toll-like receptor 3 (TLR3) plays an essential role in host defense against EV71 infection. This study was designed to assess the possible association between the TLR3c.1377C/T polymorphism and disease severity in Chinese children with EV71 infection. The TLR3c.1377C/T gene polymorphism was identified in EV71-infected patients (n = 177), including mild cases (n = 99) and severe cases (n = 78) as well as healthy controls (n = 225), using improved multiplex ligation detection reaction (iMLDR) technology. Serum levels of IFN-γ and IL-4 were measured using enzyme-linked immunosorbent assays. The presence of the TT genotype (p = 0.030) and the T allele (OR, 1.8; 95% CI, 1.2-2.8; p = 0.010) was significantly more frequent in severe cases. The plasma levels of IFN-γ and the IFN-γ/IL-4 ratio were significantly lower with the TT (102.0 ± 24.2 pg/mL, p < 0.01 and 14.2 ± 2.8, p < 0.001) and CT genotypes (114.1 ± 26.2 pg/mL, p < 0.05 and 18.0 ± 3.1, p < 0.001) than with the CC genotype (135.5 ± 36.8 pg/mL and 24.9 ± 4.7), but the plasma levels of IL-4 with the TT (7.3 ± 1.7 pg/mL, p < 0.01) and CT genotypes (6.4 ± 1.3 pg/mL, p < 0.05) were significantly higher than with the CC genotype (5.5 ±1.3 pg/mL). These findings suggest that the TLR3c.1377T allele is associated with susceptibility to severe EV71 infection in Chinese children.
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Enterovirus Humano A/fisiología , Infecciones por Enterovirus/genética , Polimorfismo de Nucleótido Simple , Receptor Toll-Like 3/genética , Alelos , Pueblo Asiatico/genética , Niño , Preescolar , China , Infecciones por Enterovirus/sangre , Infecciones por Enterovirus/virología , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Lactante , Interferón gamma/sangre , Interleucina-4/sangre , MasculinoRESUMEN
BACKGROUND: This study aimed to explore the characteristics of event-related potentials induced by facial emotion recognition in patients with first-episode schizophrenia and in their siblings. METHODS: In this case-control study, 30 first-episode schizophrenia patients, 26 siblings, and 30 healthy controls were enrolled. They completed facial emotion recognition tasks from the Ekman Standard Faces Database as an induction for evoked potentials. Evoked potential data were obtained using a 64-channel electroencephalography system. Average evoked potential waveforms were computed from epochs for each stimulus type. The amplitudes and latency of the event-related potentials for P100 (positive potential 100 ms after stimulus onset), N170 (negative potential 170 ms after stimulus onset), and N250 (fronto-central peak) were investigated at O1, O2, P7, and P8 electrode locations. RESULTS: There were significant differences between the groups for P100 amplitude (F = 11.526, P < 0.001), electrode position (F = 450.592, P < 0.001), emotion (disgust vs. happiness vs. fear) (F = 1722.467, P < 0.001), and emotion intensity (low vs. moderate vs. high) (F = 1737.169, P < 0.001). Post hoc analysis showed significantly larger amplitudes in the schizophrenia group at the O1, O2, P7, and P8 electrode positions. There were no significant differences between the siblings of schizophrenia patients and the healthy controls. CONCLUSIONS: Patients with schizophrenia showed abnormalities in P100 amplitude, but similar results were not observed in their siblings. These results provide evidence of dysfunctional event-related potential patterns underlying facial emotion processing in patients with schizophrenia. P100 may be a characteristic index of schizophrenia.
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Potenciales Evocados/fisiología , Expresión Facial , Esquizofrenia/diagnóstico , Esquizofrenia/fisiopatología , Psicología del Esquizofrénico , Hermanos/psicología , Adulto , Estudios de Casos y Controles , Electroencefalografía/métodos , Emociones/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estimulación Luminosa/métodosAsunto(s)
Betacoronavirus , Infecciones por Coronavirus , Pulmón , Pandemias , Neumonía Viral , Anciano , Antígenos Virales/inmunología , Betacoronavirus/inmunología , Biopsia con Aguja , COVID-19 , Prueba de COVID-19 , Técnicas de Laboratorio Clínico , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/metabolismo , Infecciones por Coronavirus/patología , Resultado Fatal , Humanos , Inmunohistoquímica , Pulmón/diagnóstico por imagen , Pulmón/metabolismo , Pulmón/patología , Masculino , Neumonía Viral/diagnóstico , Neumonía Viral/metabolismo , Neumonía Viral/patología , SARS-CoV-2 , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Although many studies have examined executive functions and facial emotion recognition in people with schizophrenia, few of them focused on the correlation between them. Furthermore, their relationship in the siblings of patients also remains unclear. The aim of the present study is to examine the correlation between executive functions and facial emotion recognition in patients with first-episode schizophrenia and their siblings. METHODS: Thirty patients with first-episode schizophrenia, their twenty-six siblings, and thirty healthy controls were enrolled. They completed facial emotion recognition tasks using the Ekman Standard Faces Database, and executive functioning was measured by Wisconsin Card Sorting Test (WCST). Hierarchical regression analysis was applied to assess the correlation between executive functions and facial emotion recognition. RESULTS: Our study found that in siblings, the accuracy in recognizing low degree 'disgust' emotion was negatively correlated with the total correct rate in WCST (r = -0.614, p = 0.023), but was positively correlated with the total error in WCST (r = 0.623, p = 0.020); the accuracy in recognizing 'neutral' emotion was positively correlated with the total error rate in WCST (r = 0.683, p = 0.014) while negatively correlated with the total correct rate in WCST (r = -0.677, p = 0.017). People with schizophrenia showed an impairment in facial emotion recognition when identifying moderate 'happy' facial emotion, the accuracy of which was significantly correlated with the number of completed categories of WCST (R(2) = 0.432, P < .05). There were no correlations between executive functions and facial emotion recognition in the healthy control group. CONCLUSIONS: Our study demonstrated that facial emotion recognition impairment correlated with executive function impairment in people with schizophrenia and their unaffected siblings but not in healthy controls.
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Emociones , Función Ejecutiva/fisiología , Expresión Facial , Reconocimiento Facial , Psicología del Esquizofrénico , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Análisis de Regresión , Hermanos/psicología , Adulto JovenRESUMEN
BACKGROUND: Duration of untreated psychosis (DUP) is believed to exert a deleterious effect on cognitive and social function. However, to date, results remain inconclusive. AIMS: To investigate the effect of time and DUP on cognitive and social functioning in first-episode schizophrenia (FES) subjects in Shanghai, China. METHODS: FES patients were subjected to a comprehensive neuropsychological battery, the Personal and Social Performance scale (PSP) and the Positive and Negative Symptoms Scale (PANSS) at baseline, 6 month and 1 year. DUP was defined as the time from onset of first psychotic symptoms to first contact made with psychiatric services. RESULTS: Though the rate of non-completers in our observational study was relatively high (40%), we did not find any significant differences between the completers and non-completers (P-values > 0.05). Significant impairments in verbal learning and memory and executive function were noted over the course of 1 year. Meanwhile, social function improved significantly over the course of 1 year. Although, DUP did not share any significant relationship with cognitive or social function the effect estimate (range: - 0.03 to 0.02) of an increase of 1 month in DUP was clinically non-negligible in this study. CONCLUSIONS: In Chinese FES patients, the longitudinal course of cognitive function tends to worsen in verbal learning and memory, executive function and motor speed, while that of social function tends to improve. DUP was not found to be associated with cognitive or social deterioration in Chinese FES.
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Cognición , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/epidemiología , Esquizofrenia/diagnóstico , Esquizofrenia/epidemiología , Ajuste Social , Adulto , Antipsicóticos/uso terapéutico , China/epidemiología , Función Ejecutiva , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas/normas , Trastornos Psicóticos/tratamiento farmacológico , Esquizofrenia/tratamiento farmacológico , Factores de Tiempo , Resultado del Tratamiento , Aprendizaje Verbal , Adulto JovenRESUMEN
BACKGROUND: Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which was mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported. METHODS: Neural antibodies associated with autoimmune encephalitis in serum and cerebrospinal fluid (CSF) were tested using cell-based assays (CBA) with immunofluorescence double staining. The antibodies in serum were further confirmed by tissue-based assay (TBA) with rat brain and kidney tissue. RESULTS: We reported a pediatric case presented with epileptic seizures, cognitive impairments, and sleep disorders. Autoantibody screening showed anti-IgLON5 antibody IgG (1:100+) and anti-NMDAR antibody IgG (1:10+) in the serum. She was diagnosed as anti-IgLON5 encephalitis. Her conditions improved rapidly by treated with intravenous immunoglobulin and high dose intravenous methylprednisolone. CONCLUSION: We described the second pediatric case with anti-IgLON5 encephalitis, who was also the first presented with epileptic seizures as the initial presentation. Anti-IgLON5 encephalitis might have mild manifestations. For patients with new onset seizures associated with cognitive impairments and sleep disturbances, anti-IgLON5 antibody should be tested as early, even in children.
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The possible protective effect of interleukin-32 (IL-32) in Mycobacterium tuberculosis (Mtb) infection has been indicated. However, few studies have been focused on IL-32 in tuberculosis patients. Additionally, the regulation of IL-32 production has rarely been reported. In the present study, the production, regulation, and role of IL-32 in tuberculous pleurisy (TBP) were investigated. We found that the content of IL-32 in tuberculous pleural effusion (TPE) was higher than the level in the malignant pleural effusion and transudative pleural effusion. The level of IL-32 mRNA in pleural fluid mononuclear cells (PFMCs) was higher than that in peripheral blood mononuclear cells (PBMCs) of patients with TBP, and this difference was mainly reflected in the splice variants of IL-32α, IL-32ß, and IL-32γ. Compared with the PBMCs, PFMCs featured higher IL-32ß/IL-32γ and IL-32α/IL-32γ ratios. In addition, lipopolysaccharide (LPS), Bacillus Calmette-Guérin (BCG), and H37Ra stimulation could induce IL-32 production in the PFMCs. IL-32 production was positively correlated with the TNF-α, IFN-γ, and IL-1Ra levels in TPE, whereas IFN-γ, but not TNF-α or IL-1Ra, could induce the production of IL-32 in PFMCs. Furthermore, IL-32γ could induce the TNF-α production in PFMCs. Monocytes and macrophages were the main sources of IL-32 in PFMCs. Nevertheless, direct cell-cell contact between lymphocytes and monocytes/macrophages plays an important role in enhancing IL-32 production by monocyte/macrophage cells. Finally, compared with the non-tuberculous pleural effusion, the purified CD4+ and CD8+ T cells in TPE expressed higher levels of intracellular IL-32. Our results suggested that, as a potential biomarker, IL-32 may play an essential role in the protection against Mtb infection in patients with TBP. However, further studies need to be carried out to clarify the functions and mechanisms of the IFN-γ/IL-32/TNF-α axis in patients with TBP.
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Interleucinas , Derrame Pleural , Tuberculosis Pleural , Humanos , Interleucinas/metabolismo , Interleucinas/inmunología , Tuberculosis Pleural/inmunología , Tuberculosis Pleural/metabolismo , Masculino , Femenino , Persona de Mediana Edad , Adulto , Derrame Pleural/inmunología , Derrame Pleural/metabolismo , Derrame Pleural/microbiología , Leucocitos Mononucleares/inmunología , Leucocitos Mononucleares/metabolismo , Mycobacterium tuberculosis/inmunología , Anciano , Interferón gamma/metabolismoRESUMEN
BACKGROUND: Acute bulbar palsy-plus (ABPp) syndrome is an unusual variant of Guillain-Barré syndrome (GBS). Anti-GT1a and anti-GQ1b antibodies have been reported in patients with ABPp, but without reports related to GD3 antibodies. METHODS: Clinical data of a patient diagnosed as ABPp syndrome were reviewed clinically. And we summarized the GBS patients with ABP and facial paralysis reported in the literature. RESULTS: We reported a 13-year-old girl presented with asymmetric bifacial weakness, bulbar palsy and transient limb numbness, and had positive serum IgG anti-GD3 antibody. Through reviewing the GBS patients with ABP and facial paralysis reported previously, we found that facial palsy could be unilateral or bilateral. The bilateral facial palsy could present successively or simultaneously, and could be symmetrical or asymmetrical. Other common symptoms included ophthalmoplegia, sensory abnormality and ataxia. IgG anti-GT1a and IgG anti-GQ1b antibodies were the most frequent. Most of the patients had full recovery within two weeks to one year of follow-up. CONCLUSIONS: We reported a patient with asymmetric bifacial palsy and bulbar palsy, which seemed to fit the diagnosis of ABPp syndrome. This was the first report of ABPp variant of GBS with positive serum ganglioside GD3 IgG antibody.
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Gangliósidos , Síndrome de Guillain-Barré , Inmunoglobulina G , Humanos , Femenino , Gangliósidos/inmunología , Adolescente , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/inmunología , Síndrome de Guillain-Barré/sangre , Inmunoglobulina G/sangre , Inmunoglobulina G/inmunología , Autoanticuerpos/sangreAsunto(s)
Enterovirus Humano A , Infecciones por Enterovirus/genética , Interleucina-10/genética , Polimorfismo Genético , Alelos , Niño , Preescolar , Citocinas/biosíntesis , Infecciones por Enterovirus/inmunología , Femenino , Genotipo , Humanos , Lactante , Interleucina-10/sangre , Interleucina-6/sangre , Masculino , Estudios Prospectivos , Índice de Severidad de la EnfermedadRESUMEN
Background: Tuberculosis (TB) continues to be a common disease in developing countries, among which middle ear TB is rare. Furthermore, it is relatively difficult to make an early diagnosis and provide follow-up treatment for middle ear TB. So, it is necessary to report this case for reference and further discussion. Case presentation: We reported 1 case of multidrug-resistant tuberculosis otitis media. TB otitis media is rare in tuberculosis; multidrug-resistant TB otitis media is even more rare. Our paper analyzes the possible causes, imaging, molecular biology, pathology, and clinical manifestations of multidrug-resistant TB otitis media. Conclusion: PCR and DNA molecular biology techniques are highly recommended for the early diagnosis of multidrug-resistant TB otitis media. Early, effective anti-tuberculosis treatment is the guarantee for further recovery for patients with multidrug-resistant TB otitis media.
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Introduction: Tracheobronchopathia osteochondroplastica (TO) is a relatively rare benign tracheobronchial disease, which is often misdiagnosed or missed. To date, there is no specific treatment for TO. The aim of this study was to investigate the clinical manifestations, imaging features, bronchoscopy results, pathological findings, and diagnostic points of TO. Patients and methods: A total of 33 patients diagnosed with TO were enrolled. Clinical data were collected using retrospective methods in the period from January 2021 and November 2022. Descriptive analysis was used. Results: Patients included 17 (51.5%) male and 16 (48.5%) female, with a median age of 54 years. The main clinical manifestations included cough in 15 cases, fever in 6 cases, chest tightness in 4 cases, haemoptysis in 3 cases, and chest pain in 4 cases. The time from the onset of symptoms to diagnosis was 1 week to 96 months. Some patients were diagnosed with other lung diseases, including 16 patients with tuberculosis, 2 patients with lung cancer, 3 patients with nontuberculous mycobacteriosis, 3 patients with tuberculous pleurisy, 2 patients with bronchiectasis, and 1 patient with pneumonia. Chest computed tomography (CT) scan demonstrated calcified nodules in 10 (30.3%) patients. In bronchoscopy, entire tracheal involvement was found in 21 (63.6%) patients, 12 (36.4%) patients were found to have involvement of only part of the trachea. The patients were divided into three groups according to the bronchoscopic presentation, the largest proportion was stage II (19/33), followed by stage I (8/33) and stage III (6/33). Histopathological findings showed squamous metaplasia, cartilaginous, and bony tissues. Conclusion: TO is a slowly progressing disease with non-specific clinical symptoms and a low positive rate of imaging diagnosis, making it susceptible to misdiagnosis and missed diagnosis. The disease needs to be diagnosed by combining imaging features, fiberoptic bronchoscopy, and pathological findings.
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Introduction: Hemiplegic migraine (HM) is a rare subtype of migraine. HM in children may be atypical in the initial stage of the disease, which could easily lead to misdiagnosis. Methods: We report two cases of atypical hemiplegic migraine that onset as an acute encephalopathy. And a comprehensive search was performed using PubMed, Web of Science, and Scopus. We selected only papers that reported complete clinical information about the patients with CACNA1A or ATP1A2 gene mutation. Results: Patient #1 showed a de novo mutation, c.674C>A (p. Pro225His), in exon 5 of the CACNA1A gene. And patient #2 showed a missense mutation (c.2143G>A, p. Gly715Arg) in exon 16 of the ATP1A2. Together with our two cases, a total of 160 patients (73 CACNA1A and 87 ATP1A2) were collected and summarized finally. Discussion: Acute encephalopathy is the main manifestation of severe attacks of HM in children, which adds to the difficulty of diagnosis. Physicians should consider HM in the differential diagnosis of patients presenting with somnolence, coma, or convulsion without structural, epileptic, infectious, or inflammatory explanation. When similar clinical cases appear, gene detection is particularly important, which is conducive to early diagnosis and treatment. Early recognition and treatment of the disease can help improve the prognosis.
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Over 766 million people have been infected by coronavirus disease 2019 (COVID-19) in the past 3 years, resulting in 7 million deaths. The virus is primarily transmitted through droplets or aerosols produced by coughing, sneezing, and talking. A full-scale isolation ward in Wuhan Pulmonary Hospital is modeled in this work, and water droplet diffusion is simulated using computational fluid dynamics (CFD). In an isolation ward, a local exhaust ventilation system is intended to avoid cross-infection. The existence of a local exhaust system increases turbulent movement, leading to a complete breakup of the droplet cluster and improved droplet dispersion inside the ward. When the outlet negative pressure is 4.5 Pa, the number of moving droplets in the ward decreases by approximately 30% compared to the original ward. The local exhaust system could minimize the number of droplets evaporated in the ward; however, the formation of aerosols cannot be avoided. Furthermore, 60.83%, 62.04%, 61.03%, 60.22%, 62.97%, and 61.52% of droplets produced through coughing reached patients in six different scenarios. However, the local exhaust ventilation system has no apparent influence on the control of surface contamination. In this study, several suggestions with regards to the optimization of ventilation in wards and scientific evidence are provided to ensure the air quality of hospital isolation wards.